Paralogue Annotation for KCNJ2 residue 159

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 159
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNJ2 residue 159

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ11	L147P	Hypoglycaemia, persistent hyperinsulinaemic	Medium	9	8923010

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNJ2.

KCNJ2	FTAAFLFSIETQTTIGYGFRCVTDECPIAV>F<MVVFQSIVGCIIDAFIIGAVMAKMAKPKKR	189
KCNJ1	LTSAFLFSLETQVTIGYGFRCVTEQCATAI>F<LLIFQSILGVIINSFMCGAILAKISRPKKR	188
KCNJ3	FPSAFLFFIETEATIGYGYRYITDKCPEGI>I<LFLFQSILGSIVDAFLIGCMFIKMSQPKKR	190
KCNJ4	FLGAFLFSVETQTTIGYGFRCVTEECPLAV>I<AVVVQSIVGCVIDSFMIGTIMAKMARPKKR	181
KCNJ5	FVSAFLFSIETETTIGYGFRVITEKCPEGI>I<LLLVQAILGSIVNAFMVGCMFVKISQPKKR	196
KCNJ6	FVSAFLFSIETETTIGYGYRVITDKCPEGI>I<LLLIQSVLGSIVNAFMVGCMFVKISQPKKR	199
KCNJ8	FTSAFLFSIEVQVTIGFGGRMMTEECPLAI>T<VLILQNIVGLIINAVMLGCIFMKTAQAHRR	187
KCNJ9	FVAAFLFSIETETTIGYGHRVITDQCPEGI>V<LLLLQAILGSMVNAFMVGCMFVKISQPNKR	167
KCNJ10	LTGAFLFSLESQTTIGYGFRYISEECPLAI>V<LLIAQLVLTTILEIFITGTFLAKIARPKKR	175
KCNJ11	FSSAFLFSIEVQVTIGFGGRMVTEECPLAI>L<ILIVQNIVGLMINAIMLGCIFMKTAQAHRR	177
KCNJ12	FMAAFLFSIETQTTIGYGLRCVTEECPVAV>F<MVVAQSIVGCIIDSFMIGAIMAKMARPKKR	190
KCNJ13	FTAAFSFSLETQLTIGYGTMFPSGDCPSAI>A<LLAIQMLLGLMLEAFITGAFVAKIARPKNR	166
KCNJ14	FLAAFLFALETQTSIGYGVRSVTEECPAAV>A<AVVLQCIAGCVLDAFVVGAVMAKMAKPKKR	194
KCNJ15	LTGAFLFSLESQTTIGYGVRSITEECPHAI>F<LLVAQLVITTLIEIFITGTFLAKIARPKKR	174
KCNJ16	FTGAFLFSLETQTTIGYGYRCVTEECSVAV>L<MVILQSILSCIINTFIIGAALAKMATARKR	178
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F159L	c.477C>A	Putative Benign			SIFT: Polyphen: